Comprehensive surgical management of cherubism with orbital involvement

Leyva, P. de; Eslava, J.M.; Sales‐Sanz, Marco; García-Serrano, Guillermo; Sagüillo, Kora; Acero, Julio

doi:10.1016/j.ajoms.2014.07.001

Cited by 2 publications

(2 citation statements)

References 25 publications

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“…Early surgical intervention is contraindicated because it appears to predispose to recurrences 72 . Some cases of regrowth after minor surgical procedures have been reported 45,[73][74][75] . However, it is still not well established whether surgery could really have induced tumour progression or whether surgery in these cases was performed in patients becoming symptomatic in a phase of rapid growth that continued after surgery 45 .…”

Section: Denosumabmentioning

confidence: 99%

Cherubism: a systematic literature review of clinical and molecular aspects

Guimarães

Gomes

Gomez

2021

International Journal of Oral and Maxillofacial Surgery

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The purpose of this review was to integrate the clinical, radiological, microscopic, and molecular data of published cherubism cases, in addition to therapeutic approaches, to provide more concise information about the disease. An electronic search was undertaken in September 2019. Eligibility criteria included publications having enough clinical, radiological, and histological information to confirm the diagnosis. A total of 260 publications reporting 513 cherubism cases were included. Familial history was observed in 310/458 cases (67.7%). SH3BP2 mutations were reported in 101/108 cases (93.5%) and mainly occurred at protein residues 415, 418, 419, and 420. Retrospective clinical grading was possible in 175 cases. Advanced clinical grading was associated with tooth agenesis, but not with other clinical, radiological, and genetic features. Specific amino acid substitutions of SH3BP2 mutations were not associated with the clinical grading of the disease. 'Wait and see' was the most common therapeutic approach. In a small number of cases, drugs were used in the treatment, with variable response. In conclusion, there is no clear correlation between the genotype and the phenotype of the disease, but additional genomic and gene expression regulation information is necessary for a better understanding of cherubism.

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Section: Denosumabmentioning

confidence: 99%

Cherubism: a systematic literature review of clinical and molecular aspects

Guimarães

Gomes

Gomez

2021

International Journal of Oral and Maxillofacial Surgery

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“…Other considerations were ameloblastoma, which would typically present with expansile uni-or multilocular radiolucent lesions, [3] and cherubism, which would present with expansile multilocular lytic lesions secondary to bony replacement by fibrous tissue. [4] Magnetic resonance imaging (MRI) was done for better delineation of the lesion. Findings showed that the densities initially noted within the right maxillary sinus on CT scan actually represented a soft-tissue mass (Figure 4).…”

Section: Case Reportmentioning

confidence: 99%

Langerhans cell histiocytosis: vanishing mandible in a 10-year-old

Cabungcal

Pangan

2016

Acta Oto-Laryngologica Case Reports

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Langerhans cell histiocytosis (LCH) is a rare idiopathic disorder that results in tissue destruction due to the intense and abnormal proliferation of histiocytes. It affects numerous organs, but isolated mandibular osteolysis has not been previously reported as an initial manifestation of this disease. This paper aims to describe an unusual presentation of LCH in the mandible of a 10-year-old girl initially assessed to have Gorham's disease based on clinical and imaging findings. Computerized tomography (CT) scan and MRI showed extensive lysis and resorption of the mandible, with note of a contrast-enhancing soft-tissue mass in the right maxillary sinus. Incisional biopsy and histopathologic examination were performed, and the diagnosis of LCH was established and confirmed by S100 and CD1-a immunostaining positivity. The patient underwent chemotherapy with vinblastine and prednisone which eventually resulted in reconstitution of the patient's mandible. LCH should be considered as a differential in a patient presenting with signs and symptoms of Gorham's disease.

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Comprehensive surgical management of cherubism with orbital involvement

Cited by 2 publications

References 25 publications

Cherubism: a systematic literature review of clinical and molecular aspects

Cherubism: a systematic literature review of clinical and molecular aspects

Langerhans cell histiocytosis: vanishing mandible in a 10-year-old

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